Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria.

ABSTRACT:

Purpose

To analyze the relationship between ARMS2 and HTRA1 in the association with age-related macular degeneration (AMD) in an independent case-control dataset and to investigate the subcellular localization of the ARMS2 protein in an in vitro system.

Methods

Two SNPs in ARMS2 and HTRA1 were genotyped in 685 cases and 269 controls by a genotyping assay. Allelic association was tested by a chi(2) test. A likelihood ratio test (LRT) of full versus reduced models was used to analyze the interaction between ARMS2 and smoking and HTRA1 and smoking, after adjustment for CFH and age. Immunofluorescence and immunoblot were applied to localize ARMS2 in retinal epithelial ARPE-19 cells and COS7 cell transfected by ARMS2 constructs.

Results

Both significantly associated SNP rs

SUBMITTER: Wang G 

PROVIDER: S-EPMC3001322 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature